Diagnosis is based on family as well as personal medical history; physical examinations and lab tests are also done.
Genetic Testing:
A blood sample is taken so that DNA can be analysed to see if the mutation for Huntington's disease exists in the person. To help diagnosis and make it more accurate, close relatives - preferably a parent - of the person being tested might also be asked to give DNA samples.
Presymptomatic Testing:
This is testing done before any symptoms show. People who get this test most likely have a family history of Huntington's disease. This form of testing can be done on anyone - adults, children or foetuses, although testing a foetus can be risky and difficult. A negative pre-symptomatic test will mean the person does not carry the gene for Huntington's disease. If the pre-symptomatic test comes back positive, the person does carry the gene for the disease but it may be years or decades before symptoms start showing.
Couples who are at risk of passing on Huntington's disease can have a procedure done where embryos from the couple's sperm and eggs are tested to find the ones that do not have the Huntington's disease mutation.
Computed Tomography:
(Also known as CT scan)
The brain's internal structure is scanned to make computer-generated images. Patients who have Huntington's disease have brains with two shrunken areas, and enlarged cavities called ventricles. However, these things don't always mean the patient has Huntington's, and not having these things does not guarantee that the patient does not have Huntington's disease.
Diagnosis of Huntington's Disease
Diagnosis is based on family as well as personal medical history; physical examinations and lab tests are also done.
Genetic Testing:
A blood sample is taken so that DNA can be analysed to see if the mutation for Huntington's disease exists in the person. To help diagnosis and make it more accurate, close relatives - preferably a parent - of the person being tested might also be asked to give DNA samples.
Presymptomatic Testing:
This is testing done before any symptoms show. People who get this test most likely have a family history of Huntington's disease. This form of testing can be done on anyone - adults, children or foetuses, although testing a foetus can be risky and difficult. A negative pre-symptomatic test will mean the person does not carry the gene for Huntington's disease. If the pre-symptomatic test comes back positive, the person does carry the gene for the disease but it may be years or decades before symptoms start showing.
Couples who are at risk of passing on Huntington's disease can have a procedure done where embryos from the couple's sperm and eggs are tested to find the ones that do not have the Huntington's disease mutation.
Computed Tomography:
(Also known as CT scan)
The brain's internal structure is scanned to make computer-generated images. Patients who have Huntington's disease have brains with two shrunken areas, and enlarged cavities called ventricles. However, these things don't always mean the patient has Huntington's, and not having these things does not guarantee that the patient does not have Huntington's disease.
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